Linked Data
dbSNP Id:
rs41562916
gnomAD v2:
6-31238907-A-C
gnomAD v3:
6-31271130-A-C
gnomAD v4:
6-31271130-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271130A>C , CM000668.2:g.31271130A>C | GRCh38 |
| NC_000006.11:g.31238907A>C , CM000668.1:g.31238907A>C | GRCh37 |
| NC_000006.10:g.31346886A>C | NCBI36 |
| NG_029422.2:g.6002T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.562T>G MANE Select | ENSP00000365402.5:p.Cys188Gly | |
| ENST00000376228.9:c.562T>G | ENSP00000365402.5:p.Cys188Gly | |
| ENST00000376237.8:c.*149T>G | ENSP00000365412.4:n.*149T>G | |
| ENST00000383329.7:c.562T>G | ENSP00000372819.3:p.Cys188Gly | |
| ENST00000415537.1:c.560T>G | ||
| ENST00000484378.1:n.831T>G | ||
| ENST00000487245.5:n.921T>G | ||
| ENST00000495835.1:n.751T>G | ||
| NM_002117.5:c.562T>G | NP_002108.4:p.Cys188Gly | |
| NM_002117.6:c.562T>G MANE Select | NP_002108.4:p.Cys188Gly |